Varaico: Literature-Extracted Genetic Variants

CHRDL2

37 papers

RefSeq Summary

This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the trans...

Pfam Domains

VWC2L_2ndaa 33–94UCSCVWC2L-like domain

VWCaa 111–174UCSCvon Willebrand factor type C domain

VWCaa 252–314UCSCvon Willebrand factor type C domain

Gene Aliases

HGNC Name

chordin like 2

HGNC Alias Symbol

BNF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001278473.3

p.Y49_L50insFs

c.147_148insA

Surrounding Variants

1 paper

NM_001278473.3

p.L50fs

c.148_149fs

1 paper

NM_001278473.3

p.P48R

c.143C>G

1 paper

NM_001278473.3

p.P48A

c.142C>G

1 paper

NM_001278473.3

p.P52A

c.154C>G

1 paper

NM_001278473.3

p.G54A

c.161G>C

1 paper

NM_001278473.3

p.P42delFs

c.126delG

1 paper

NM_001278473.3

p.G43fs

c.127_128fs

1 paper

NM_001278473.3

p.M56I

c.168G>A

1 paper

NM_001278473.3

p.P42S

c.124C>T

1 paper

NM_001278473.3

p.C58W

c.174C>G

1 paper

NM_001278473.3

p.E65*

c.193G>T

1 paper

NM_001278473.3

p.V69A

c.206T>C